CPA6 (carboxypeptidase A6)

Gene

• Entrez ID: 57094
• Gene name: Carboxypeptidase A6
• Gene symbol: CPA6
• Synonyms (NCBI Gene): CPAH, ETL5, FEB11
• Chromosome: 8
• Chromosome location: 8q13.2
• Summary: The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35993949	G>C	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs147067921	A>G,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs199576384	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs376266840	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs773734224	G>A	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs778807405	G>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022945	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	NAS	11836249
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 609562
• HGNC: 17245
• e!Ensembl: ENSG00000165078

Protein

• UniProt ID: Q8N4T0
• Protein name: Carboxypeptidase A6 (EC 3.4.17.-)
• Protein function: May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preferen
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02244	Propep_M14	43 → 118	Carboxypeptidase activation peptide	Domain
  PF00246	Peptidase_M14	145 → 424	Zinc carboxypeptidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269|PubMed:21922598}.
• Sequence:

  MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKIS
  YQLKVDLWQPSSISYVSEGTVTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGS
  SLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLIHMFSIGRSYEGRSLFILKLG
  RRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNV
  DGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESE
  PEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQS
  VYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELRDTGYFGFLLPEMLIKPTCTE
  TMLAVKNITMHLLKKCP

• Sequence length: 437

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Epilepsy	epilepsy, familial temporal lobe epilepsy 5	N/A	N/A	ClinVar, GenCC
Febrile seizures	febrile seizures, familial, 11	N/A	N/A	ClinVar, GenCC
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Temporal lobe epilepsy	Familial temporal lobe epilepsy 5, Familial temporal lobe epilepsy 2	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	26648591
Colitis Ulcerative	Inhibit	32570281
Diabetes Mellitus Type 2	Associate	29650774
Epilepsies Partial	Associate	23105115
Epilepsy	Associate	23105115, 25875328
Epilepsy Temporal Lobe	Associate	23105115, 25875328
Myoclonic Epilepsy Juvenile	Associate	25875328
Seizures Febrile	Associate	23105115, 25875328